Animal models of Lesch-Nyhan syndrome.
In humans, deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) is associated with a disorder known as Lesch-Nyhan syndrome which includes severe neurobehavioral abnormalities. Several animal models which have been developed to examine the neurobiologic substrates of this disorder have suggested a role for abnormal function in purine/dopamine neurotransmission, but the relationship between HPRT-deficiency and these abnormalities remains unknown. Recently, HPRT-deficient mice have been produced which appear to have similar, though more subtle changes in brain dopamine function. These mice will be useful in elucidating the relationship between HPRT-deficiency and the neurological deficits observed in patients with this disorder.
Jinnah
H A
HA
Department of Neurosciences, UCSD School of Medicine, La Jolla 92093.
Gage
F H
FH
Friedmann
T
T
D004195:Disease Models, Animal; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000503:physiopathology*